Varaico: Literature-Extracted Genetic Variants

Gene:RDH11
Variant:p.R67*
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RDH11

NM_016026.4:p.R67*

Associated Papers

Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11-Related Phenotype.

Stephenson KAJ et al.

Clinical Genetics, 2025

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.

Liu YD et al.

Clinical Genetics, 2022

Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.

Oh JK et al.

Scientific Reports, 2020

32488013 (PubMed )
Supplement: 41598_2020_65763_MOESM1_ESM.pdf

Retinol Dehydrogenases Regulate Vitamin A Metabolism for Visual Function.

Sahu B et al.

Nutrients, 2016

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Xie YA et al.

Human Molecular Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."